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rs80356890

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356890(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067629
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356890
dbSNP (classic)rs80356890
ClinGenrs80356890
ebirs80356890
HLIrs80356890
Exacrs80356890
Gnomadrs80356890
Varsomers80356890
LitVarrs80356890
Maprs80356890
PheGenIrs80356890
Biobankrs80356890
1000 genomesrs80356890
hgdprs80356890
ensemblrs80356890
geneviewrs80356890
scholarrs80356890
googlers80356890
pharmgkbrs80356890
gwascentralrs80356890
openSNPrs80356890
23andMers80356890
SNPshotrs80356890
SNPdbers80356890
MSV3drs80356890
GWAS Ctlgrs80356890
Max Magnitude6

23andMe name: i5010089

ClinVar
Risk rs80356890(G;G)
Alt rs80356890(G;G)
Reference Rs80356890(A;A)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41219646T>C
CLNSRC Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein)
CLNACC RCV000048749.5, RCV000112475.2, RCV000163024.1, RCV000212192.1,